Alison Colley

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas et al. · New England Journal of Medicine · 2017 · 235 citations · Full text

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Ági K. Gedeon, Alison Colley, Robyn V. Jamieson et al. · Nature Genetics · 1999 · 187 citations

Somatic Variant, Genetic Disorder, Genetics +7

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 54 citations · Full text

KBG syndrome: An Australian experience

Natalia Murray, Bronwyn Burgess, Robin Hay et al. · American Journal of Medical Genetics Part A · 2017 · 33 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Kousseff syndrome: A causally heterogeneous disorder

Kenneth N. Maclean, Maxine Field, Alison Colley et al. · American Journal of Medical Genetics Part A · 2003 · 18 citations